ArticleOncotarget2015
Whole transcriptome sequencing identifies BCOR internal tandem duplication as a common feature of clear cell sarcoma of the kidney.
Article in Oncotarget, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 33 papers.
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Who cites it
33 citing papers in PubMed, 65 citations in OpenAlex.
- Trial
- BCOR loss promotes both retinoblastoma growth and susceptibility to IGF1R inhibition.Neuro-oncology · 2025Article
- Review
- Aberrant gene activation in synovial sarcoma relies on SSX specificity and increased PRC1.1 stability.Nature structural & molecular biology · 2023Article
- Molecular Signature of Biological Aggressiveness in Clear Cell Sarcoma of the Kidney (CCSK).International journal of molecular sciences · 2023Article
- Article
- Paediatric BCOR-associated sarcomas with a novel long spliced internal tandem duplication of BCOR exon 15.The journal of pathology. Clinical research · 2022Article
- Intra- and extra-cranial BCOR-ITD tumours are separate entities within the BCOR-rearranged family.The journal of pathology. Clinical research · 2022Article
- Imaging Features with Histopathologic Correlation of CNS High-Grade Neuroepithelial Tumors with aAJNR. American journal of neuroradiology · 2022Article
- Overall survival nomogram and relapse-related factors of clear cell sarcoma of the kidney: A study based on published patients.Frontiers in pediatrics · 2022Article
- Molecular pathogenesis and prognostication of "low-grade'' and "high-grade" endometrial stromal sarcoma.Genes, chromosomes & cancer · 2021Review
- Incidence of childhood renal tumours: An international population-based study.International journal of cancer · 2020Article
- OFCD syndrome and extraembryonic defects are revealed by conditional mutation of the Polycomb-group repressive complex 1.1 (PRC1.1) gene BCOR.Developmental biology · 2020Article
- Functional loss of a noncanonical BCOR-PRC1.1 complex accelerates SHH-driven medulloblastoma formation.Genes & development · 2020Article
- High-grade neuroepithelial tumor with BCOR exon 15 internal tandem duplication-a comprehensive clinical, radiographic, pathologic, and genomic analysis.Brain pathology (Zurich, Switzerland) · 2020Article
- Clear cell sarcoma of the kidney in children: a clinopathologic analysis of three cases.International journal of clinical and experimental pathology · 2020Article
- Clear cell sarcoma of the kidney in a 62-year-old patient presenting with generalized pruritus.BMC cancer · 2019Article
- Molecular characteristics and therapeutic vulnerabilities across paediatric solid tumours.Nature reviews. Cancer · 2019Review
- BCOR Overexpression in Renal Malignant Solitary Fibrous Tumors: A Close Mimic of Clear Cell Sarcoma of Kidney.The American journal of surgical pathology · 2019Article
- BCOR involvement in cancer.Epigenomics · 2019Review
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13 authors at 5 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposeClear cell sarcoma of the kidney (CCSK) is a rare pediatric renal tumor that is frequently difficult to distinguish among other childhood renal tumors due to its histological heterogeneity. This work evaluates genetic abnormalities carried by a series of CCSK samples by whole transcriptome sequencing (WTS), to identify molecular biomarkers that could improve the diagnostic process.
methodsWTS was performed on tumor RNA from 8 patients with CCSK. Bioinformatic analysis, with implementation of a pipeline for detection of intragenic rearrangements, was executed. Sanger sequencing and gene expression were evaluated to validate BCOR internal tandem duplication (ITD).
resultsWTS did not identify any shared SNVs, Ins/Del or fusion event. Conversely, analysis of intragenic rearrangements enabled the detection of a breakpoint within BCOR transcript recurrent in all samples. Three different in-frame ITD in exon15 of BCOR, were detected. The presence of the ITD was confirmed on tumor DNA and cDNA, and resulted in overexpression of BCOR.
conclusionsWTS coupled with specific bioinformatic analysis is able to detect rare genetic events, as intragenic rearrangements. ITD in the last exon of BCOR is recurrent in all CCSK samples analyzed, representing a valuable molecular marker to improve diagnosis of this rare childhood renal tumor.
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